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The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile

Alireza Pasdar1, Ghasem Yadegarfar, Alastair Cumming

  • 1Department of Medicine and Therapeutics, University of Aberdeen, UK. a.pasdar@abdn.ac.uk

BMC Medical Genetics
|June 8, 2007
PubMed

Insights

The ATP Binding Cassette Transporter (ABCA1) gene shows no major role in ischaemic stroke risk. While some ABCA1 haplotypes may slightly alter risk, they may influence serum lipid profiles in stroke patients.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Metabolic Disorders

Background:

  • Ischaemic stroke involves genetic and environmental factors, with lipid metabolism dysregulation playing a key role.
  • The ATP Binding Cassette Transporter (ABCA1) gene is crucial for cholesterol efflux and lipid metabolism.
  • ABCA1 gene polymorphisms can affect High Density Lipoprotein Cholesterol (HDL-C) and Apolipoprotein A-I levels, influencing atherosclerosis risk.

Purpose of the Study:

  • To investigate the distribution of ABCA1 gene polymorphisms and haplotypes in ischaemic stroke patients versus controls.
  • To determine the association between ABCA1 polymorphisms and serum lipid profiles in ischaemic stroke cases and controls.

Main Methods:

  • Study included 400 Caucasian ischaemic stroke patients and 487 controls.
  • Four common ABCA1 polymorphisms (G/A-L158L, G/A-R219K, G/A-G316G, G/A-R1587K) were genotyped using Dynamic Allele Specific Hybridisation (DASH).
  • Haplotype frequencies were estimated using the PHASE2 program.

Main Results:

  • No significant differences in genotype or allele frequencies were observed between cases and controls, except for a modest difference in ABCA1 R219K allele frequency (P=0.05).
  • Overall haplotype arrangements did not significantly differ between ischaemic stroke patients and controls (p=0.27).
  • The 2211 and 1211 haplotypes were more frequent in cases (p=0.05), suggesting a potential minor risk increase, but adjusted odds ratios were not statistically significant. Individuals with the R219K "22" genotype showed higher LDL levels (p=0.001).

Conclusions:

  • The ABCA1 gene does not appear to be a major risk factor for ischaemic stroke.
  • Certain ABCA1 haplotypes might confer a minor degree of risk or protection.
  • ABCA1 gene polymorphisms may influence serum lipid profiles.
Abstract

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